A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17051395



Internal ID102119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106080927..106085387hg38UCSC Ensembl
chr11:105951654..105956114hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384461
hg194461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511629
Supporting Variants
Samples
Known GenesAASDHPPT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17051395
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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